A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161512



Internal ID7906226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167797245..168070500hg38UCSC Ensembl
Innerchr6:168197925..168471180hg19UCSC Ensembl
Innerchr6:167940774..168214029hg18UCSC Ensembl
Innerchr6:168016481..168289736hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38273256
hg19273256
hg18273256
hg17273256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422271
Supporting Variants
SamplesND03047
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4, MLLT4-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161512
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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